Partial DiGeorge syndrome (pDGS) is caused by deletion of the 22q11.2 region. Within this region lies CrK-like (CRKL), a gene encoding an adapter protein belonging to the Crk family that is involved in the signaling cascade of IL-2, stromal cell-derived factor 1α, and type I interferon. Although recurrent infections can be observed in patients with deletion of chromosome 22 syndrome, the immune pathogenesis of this condition is yet not fully understood.
Reduction of CRKL expression in patients with partial DiGeorge syndrome is associated with impairment of T-cell functions
GIACOMELLI, Mauro Simone;KUMAR, Rajesh;SORESINA, ANNAROSA;LORENZINI, TIZIANA;MORATTO, Daniele;PLEBANI, Alessandro;LOUGARIS, Vassilios;BADOLATO, Raffaele
2016-01-01
Abstract
Partial DiGeorge syndrome (pDGS) is caused by deletion of the 22q11.2 region. Within this region lies CrK-like (CRKL), a gene encoding an adapter protein belonging to the Crk family that is involved in the signaling cascade of IL-2, stromal cell-derived factor 1α, and type I interferon. Although recurrent infections can be observed in patients with deletion of chromosome 22 syndrome, the immune pathogenesis of this condition is yet not fully understood.File in questo prodotto:
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